DNA rearrangements proximal to the EVI1 locus associated with the 3q21q26 syndrome

Levy, ER; Parganas, Evan; Morishita, K; Fichelson, Serge; James, Louise A; Oscier, David; Gisselbrecht, S; Ihle, JN; Buckle, VJ

doi:10.1182/blood.v83.5.1348.bloodjournal8351348

Cited by 57 publications

(16 citation statements)

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“…This may reflect breakpoint differences at the molecular level. The breakpoint in five cases with inv(3)(q21q26), including case 4 from this paper (case 1 in Levy et al, 1994) were shown to be localized 3' to the EVIl gene (Levy et al, 1994). Nucifora et al (1994) have shown that 3q26 contains three genes, EAP, MDSl and EVI1.…”

Section: Discussionmentioning

confidence: 52%

Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study

1995

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Cytogenetic and clinical details are presented for 66 patients with myeloid malignancy and chromosome abnormalities of 3q21 and/or 3q26 (3qabns). Bone marrow and/or peripheral blood morphology was assessed for 52 cases. 3qabns in Philadelphia negative (Ph-ve) and positive (Ph+ve) cases were inv(3)(q21q26), (21 Ph-ve, 6 Ph+ve); t(3;3)(q21;q26) (nine Ph-ve, four Ph+ve); and t(3;21)(q26;q22) (four Ph-ve, six Ph+ve). Ph-ve cases also had t(1;3)(p36;q21) (three cases), and t(3;5)(q21;q31)/(q21;q35)/(q26;q21) (five cases aged < 40 years). Three cases, aged < 30 years, had t(3;12)(q26;p13) which defines a new 3qabn subgroup. Monosomy 7 and/or 5q- accompanied inv(3) or t(3;3) in 17/30 cases. All cases had a myeloid malignancy (predominantly AML M1, M4 or M7), frequent trilineage myelodysplasia, and markedly abnormal megakaryopoiesis with micromegakaryocytes (< 30 microns). Thrombocytosis occurred in two cases only. Most Ph+ve cases were in myeloid blast crisis and in Ph+ve cases alone, micro-megakaryocytes were uniquely small (10 microns) in 7/11 cases. There were equal numbers of males and females. Seven secondary leukaemias were found in Ph-ve cases with inv(3), t(3;3), t(3;21), t(1;3) or del(3)(q21). Three cases with t(3;21) (one Ph+ve) were de novo AML or had de novo aplastic anaemia. Survival was rarely greater than 12 months from detection of the 3qabn.

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Section: Discussionmentioning

confidence: 52%

Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study

1995

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“…A brief characterization of the YACs is given in Table 1. YAC 14EE12 was isolated from the ICI library and contains the EVI1 gene as well as the FIM3 locus (Levy et al, 1994). It was kindly provided by V. J. Buckle (John Radcliffe Hospital, Oxford, UK).…”

Section: Fish With Yac Clonesmentioning

confidence: 99%

“…It has been shown that the incidence of 3q anomalies with breakpoints in q21 and q26 is higher than previously estimated and can be considered as frequent and specific chromosomal changes in myeloid malignancies . The breakpoints in both 3q regions are scattered over considerable distances (Morishita et al, 1992;Levy et al, 1994;Schnittger et al, in preparation).…”

Section: Introductionmentioning

confidence: 99%

A case of atypical myelodysplastic syndrome with micromegakaryocytes, normal platelet count, and t(3;12)(q21;p13) with inv(3)(q21q26)

Schnittger

Schoch

Streubel

et al. 1997

Genes Chromosom. Cancer

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A 49‐year‐old woman patient with atypical myelodysplastic syndrome (MDS) showing a der(3)t(3;12)(q21;p13), and der(12)t(3;12)(q21;p13)inv(3)(q21q26) as an acquired chromosomal abnormality in the bone marrow is described. The chromosomal breakpoints of the presented complex aberration with combination of the inv(3)(q21q26) and t(3;12)(q21;p13) were defined by fluorescence in situ hybridization (FISH) with yeast artificial chromosomes (YACs). The inv(3) is a relatively frequent chromosomal rearrangement in patients with myeloid malignancies and dysmegakaryopoiesis and t(3;12)(q26;p13) has also been reported as a recurrent abnormality in MDS and in blast crisis of chronic myelogenous leukemia (CML). Whereas the t(3;12), inv(3), and t(3;3) are associated with a very poor prognosis, our patient surprisingly had a mild clinical course. Genes Chromosomes Cancer 20:292–298, 1997. © 1997 Wiley‐Liss, Inc.

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“…Although the EVI1 gene is not expressed in normal haemopoietic cells, aberrant expression of the EVI1 gene has been reported in patients with 3q21q26 syndrome (Fichelson et al, 1992;Morishita et al, 1992). Recently, it has been shown that the EVI1 gene is transcriptionally activated in AMLs with t(3;3)(q21;q26) and inv(3)(q21q26) and that the chromosomal breakpoints at 3q26 in the translocation were 5 0 of the EVI1 gene, whereas the breakpoints in the inversion cases were 3 0 of the gene (Levy et al, 1994;Suzukawa et al, 1994). At 3q21, the breakpoints for both AMLs with t(3;3)(q21;q26) and inv(3)(q21q26) were found to cluster over a region of approximately 50 kb downstream of the Ribophorin I gene (Suzukawa et al, 1994).…”

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confidence: 99%

Establishment of a novel human myeloid leukaemia cell line (HNT‐34) with t(3;3)(q21;q26), t(9;22)(q34;q11) and the expression of EVI1 gene, P210 and P190 BCR/ABL chimaeric transcripts from a patient with AML after MDS with 3q21q26 syndrome

Hamaguchi

Suzukawa²,

Nagata

et al. 1997

Br J Haematol

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Summary.A novel human myeloid leukaemia cell line (HNT-34) was established from the peripheral blood of a 45-year-old female patient with acute myelogenous leukaemia (AML) transformed from chronic myelomonocytic leukaemia (CMMoL) with 3q21q26 syndrome. Morphologically, the HNT-34 cells were undifferentiated blasts which were negative for myeloperoxidase. The HNT-34 cells were positive for CD4, CD13, CD33 and CD34, but negative for CD41a and CD42b. The cells actively proliferated in suspension with a doubling time of 26-27 h in the absence of any growth factors. Neither proliferative advantage nor differentiation was observed with the addition of G-CSF, GM-CSF, IL-3, TPO, DMSO or PMA. Cytogenetic analysis showed 46,XX, t(3;3)(q21;q26), t(9;22)(q34;q11),20q¹. Molecular analysis showed expression of EVI1 gene, P210 and P190 BCR/ABL chimaeric transcripts. The chromosomal breakpoint at 3q26 of HNT-34 cell line was located to approximately 200 kb 5 0 of FIM3 locus and more upstream of the MDS1, which is the same region as that of somatic cell hybrid line H10C. The breakpoint at 3q21 was located within the 390 kb centromeric from the breakpoint cluster region. These results suggest that the HNT-34 cell line may be a useful tool for the elucidation of the mechanisms of leukaemogenesis which involve the 3q21q26 syndrome and Ph 1 chromosome.

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DNA rearrangements proximal to the EVI1 locus associated with the 3q21q26 syndrome

Cited by 57 publications

References 0 publications

Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study

Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study

A case of atypical myelodysplastic syndrome with micromegakaryocytes, normal platelet count, and t(3;12)(q21;p13) with inv(3)(q21q26)

Establishment of a novel human myeloid leukaemia cell line (HNT‐34) with t(3;3)(q21;q26), t(9;22)(q34;q11) and the expression of EVI1 gene, P210 and P190 BCR/ABL chimaeric transcripts from a patient with AML after MDS with 3q21q26 syndrome

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